Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060390_219060415delinsGGCCC , CM000664.2:g.219060390_219060415delinsGGCCC | GRCh38 |
| NC_000002.11:g.219925112_219925137delinsGGCCC , CM000664.1:g.219925112_219925137delinsGGCCC | GRCh37 |
| NC_000002.10:g.219633356_219633381delinsGGCCC | NCBI36 |
| NG_016741.1:g.5102_5127delinsGGGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.53_78delinsGGGCC MANE Select | ENSP00000295731.5:p.Leu18_Trp26delinsArgAla | |
| ENST00000295731.6:c.53_78delinsGGGCC | ENSP00000295731.5:p.Leu18_Trp26delinsArgAla | |
| NM_002181.3:c.53_78delinsGGGCC | NP_002172.2:p.Leu18_Trp26delinsArgAla | |
| NM_002181.4:c.53_78delinsGGGCC MANE Select | NP_002172.2:p.Leu18_Trp26delinsArgAla |